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Articles 31 - 60 of 281

Full-Text Articles in Pathology

Mcl Or Dlbcl - Make Right Choice!, Mohammed Shafeay, Mirza Baig, Astrid Sacasa, Ram Madasu, Delbert Benzenhafer, Alexey Glazyrin Jan 2025

Mcl Or Dlbcl - Make Right Choice!, Mohammed Shafeay, Mirza Baig, Astrid Sacasa, Ram Madasu, Delbert Benzenhafer, Alexey Glazyrin

East Florida Division GME Research Day 2025

No abstract provided.


Primary Cardiac Lymphoma: A Rare Diagnosis, Astrid Sacasa, Betty Kirimi, Mohtashim Naeem, Susana Ferra Jan 2025

Primary Cardiac Lymphoma: A Rare Diagnosis, Astrid Sacasa, Betty Kirimi, Mohtashim Naeem, Susana Ferra

East Florida Division GME Research Day 2025

No abstract provided.


Myxoid Variant: An Unusual Presentation Of Low-Grade Epithelioid Mesothelioma, Racquel Fournet, Robert Bender, Rohit Jaishankar, Alexey Glazyrin Jan 2025

Myxoid Variant: An Unusual Presentation Of Low-Grade Epithelioid Mesothelioma, Racquel Fournet, Robert Bender, Rohit Jaishankar, Alexey Glazyrin

East Florida Division GME Research Day 2025

No abstract provided.


Performance In Grading Of Well Differentiated Pancreatic Neuroendocrine Tumors (Wdpannet) Using The 2019 World Health Organization (Who) Classification Of Tumors Of The Digestive System. Experience Of A Community Teaching Hospital., Astrid Sacasa, Gul Emek Wymer, Susana Ferra Jan 2025

Performance In Grading Of Well Differentiated Pancreatic Neuroendocrine Tumors (Wdpannet) Using The 2019 World Health Organization (Who) Classification Of Tumors Of The Digestive System. Experience Of A Community Teaching Hospital., Astrid Sacasa, Gul Emek Wymer, Susana Ferra

East Florida Division GME Research Day 2025

CONTEXT: The WHO Classification of Tumors of the Digestive System (2019) categorizes WDPanNETs as grade 1 (G1), grade 2 (G2) or grade 3 (G3) by mitotic count and proliferative index (KI67). We examined the performance of pathologists and pathology trainees in grading WDPanNET according to the 2019 WHO Classification.

DESIGN: One H&E and KI-67 slides of eleven WDPanNET cases from our 2023 archives (7 G1, 1 G2 and 3 G3) were blindly evaluated by 2 junior residents (PGY-1), 2 senior residents (PGY-3), 2 pathologists without formal gastrointestinal training (NOGIP) and 2 pathologists with formal gastrointestinal training (GIP), provided with the …


Malignant Adenomyoepithelioma Of The Breast, Cole Daisley, Susana Ferra Jan 2025

Malignant Adenomyoepithelioma Of The Breast, Cole Daisley, Susana Ferra

East Florida Division GME Research Day 2025

No abstract provided.


Mesonephric-Like Carcinoma Of The Endometrium In A 73-Year-Old Female, Cameron Summers-Powell, Carina Ferraris, Zoyla Almeida, Susana Ferra, Mirza Baig Jan 2025

Mesonephric-Like Carcinoma Of The Endometrium In A 73-Year-Old Female, Cameron Summers-Powell, Carina Ferraris, Zoyla Almeida, Susana Ferra, Mirza Baig

East Florida Division GME Research Day 2025

Introduction: Mesonephric-like carcinoma (MLC) is a newly described malignant tumor that represents 1% of endometrial cancers. The etiology of this disease is currently unknown but immunohistochemical expression with GATA-3, PAX-8 and TTF-1 and lack of ER/PR positivity can aid in correct diagnosis.

Case Summary: A 73-year-old female presented to the hospital with post-menopausal bleeding, an initial hysteroscopy identified a lesion suggestive of endometrial cancer. Ultimately, the patient underwent a hysterectomy and a bilateral salpingectomy/oophorectomy. Chemotherapy ensued due to metastatic disease. At 7 months post-op, the patient appeared to be doing well.

Results: Grossly, the lesion was 5.5 cm and appeared …


Carcinoma With Osteoclast-Like Giant Cells: A Rare Histologic Variant Of Breast Cancer, Robert Bender, Makenna Bowman, Matthew Lee, Susana Ferra Jan 2025

Carcinoma With Osteoclast-Like Giant Cells: A Rare Histologic Variant Of Breast Cancer, Robert Bender, Makenna Bowman, Matthew Lee, Susana Ferra

East Florida Division GME Research Day 2025

Introduction: Osteoclast like giant cells (OGCs) can be found in various tissues such as the gallbladder, liver, pancreas, and thyroid. In breast cancer, the presence of OGCs is a rare finding. Currently knowledge of such cases is limited, with approximately 200 reported cases of osteoclast like giant cells (OGCs) among all breast carcinomas. Among the breast cancers that are classified as rare, those with OGCs make up only 0.5-1.2% of cases.

Case Description: An 80+ year-old female presented with a palpable left breast lesion initially suspected by mammography as a benign lesion. She eventually underwent breast core biopsy revealing hormone …


​Cd10 Positive Mantle Cell Lymphoma Masquerading As Follicular Lymphoma​, Matthew Lee, Jennifer Barker, Fatemeh Mousavi Jan 2025

​Cd10 Positive Mantle Cell Lymphoma Masquerading As Follicular Lymphoma​, Matthew Lee, Jennifer Barker, Fatemeh Mousavi

East Florida Division GME Research Day 2025

No abstract provided.


Lipoleiomyoma Of The Uterus, A Benign Metastasizing Tumor, Munira Malik, Mohtashim Naeem, Susana Ferra Jan 2025

Lipoleiomyoma Of The Uterus, A Benign Metastasizing Tumor, Munira Malik, Mohtashim Naeem, Susana Ferra

East Florida Division GME Research Day 2025

No abstract provided.


Unveiling A Rare Pathology: Carcinosarcoma Of The Gallbladder, Gul Emek Wymer, Laci-Rae Pitter, Susana Ferra Jan 2025

Unveiling A Rare Pathology: Carcinosarcoma Of The Gallbladder, Gul Emek Wymer, Laci-Rae Pitter, Susana Ferra

East Florida Division GME Research Day 2025

Introduction: Gallbladder carcinosarcoma is a rare and aggressive biliary tract malignancy, constituting approximately 1.7% of gallbladder cancers, with fewer than 100 cases reported in the English literature as of 2023. These tumors, often affecting gynecological organs, feature both carcinomatous and sarcomatous components. They predominantly occur in females, with a mean presentation age of 66 years. Diagnosis is primarily based on pathological analysis, and the mainstay of treatment is surgical excision.

Case Description: We present a case of an 81-year-old female with no significant medical history, who was admitted after a fall. A CT scan revealed an 18.2 cm gallbladder mass …


Quality Improvement Project To Increase Compliance With Standard 5.8: A Community Hospital Institutional Experience., Robert Bender, Nicole Sant 'Elia, Susana Ferra Jan 2025

Quality Improvement Project To Increase Compliance With Standard 5.8: A Community Hospital Institutional Experience., Robert Bender, Nicole Sant 'Elia, Susana Ferra

East Florida Division GME Research Day 2025

Background: The Commission on Cancer (CoC) was established by the American College of Surgeons in 1922. In 2020, they launched the Cancer Surgery Standards Program that introduced six operative standards. Standard 5.8 requires curative intent lung resections to include sampling from at least 1 hilar, and at least 3 mediastinal lymph node stations.

Goal: To increase our institution’s compliance with CoC standard 5.8 to greater than 80% overall adherence.

Method: Included in the study were patients undergoing curative intent lung resection for lung cancer. A protocol, including a documentation paper worksheet with metric requirements, was implemented in February 2024. Monthly …


A Case Study Of Necrobiosis Lipoidica And Literature Review, Kylee Arthurs, Brianna Tischner, Michael Higginbotham, Nathalie Ruiz, Juan Socas Jan 2025

A Case Study Of Necrobiosis Lipoidica And Literature Review, Kylee Arthurs, Brianna Tischner, Michael Higginbotham, Nathalie Ruiz, Juan Socas

West Florida Division GME Research Day 2025

No abstract provided.


Hydroxychloroquine-Induced Cardiomyopathy: A Case Report, Ahmed Hussein, Aya Salih, Tebyan Mohammedali, Yousif Mohamed, L Maximilian Buja Jan 2025

Hydroxychloroquine-Induced Cardiomyopathy: A Case Report, Ahmed Hussein, Aya Salih, Tebyan Mohammedali, Yousif Mohamed, L Maximilian Buja

Faculty, Staff and Student Publications

Hydroxychloroquine (HCQ) is an immunomodulatory medication used for decades. HCQ is a weak base accumulating in acidic cytoplasmic vesicles, such as lysosomes. This accumulation raises the pH and interferes with the functions of the lysosomal enzymes, including α-galactosidase A, resulting in a unique clinical and pathologic feature. We present a case with severe HCQ-induced cardiomyopathy to show the pattern of cardiac involvement and available imaging and pathologic modalities. The case involves a 76-year-old woman with a history of Sjögren's disease who had been treated with HCQ for 13 years and presented with symptoms of heart failure. An echocardiogram showed thick …


Educational Case: Bullous Pemphigoid, Ryan C. Saal, Alice A. Roberts, Richard M. Conran Jan 2025

Educational Case: Bullous Pemphigoid, Ryan C. Saal, Alice A. Roberts, Richard M. Conran

Department of Medicine Faculty Publications

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see https://www.academicpathologyjournal.org/pcme.1


Apocrine Breast Cancer With Psammoma Bodies In A Male Patient, Alena Bashinskaya, Eric W. Baum, Michael B. Morgan Dec 2024

Apocrine Breast Cancer With Psammoma Bodies In A Male Patient, Alena Bashinskaya, Eric W. Baum, Michael B. Morgan

HCA Healthcare Journal of Medicine

Introduction

While male breast carcinoma is a relatively uncommon occurrence, its incidence is on the rise, potentially attributed to sporadic pathophysiological mechanisms, primarily involving hormonal imbalances. Invasive apocrine carcinoma represents a small fraction of global breast malignancies, with limited instances reported among male patients in the literature. The clinical presentation of an apocrine breast carcinoma closely resembles that of other breast cancer subtypes, as it is most often described as a solitary ulcerative nodular lesion occupying a retro-areolar region of the breast. Herein, we describe a novel case of an apocrine male breast carcinoma metastasizing to the skin, given that …


The Role Of The Triglyceride-Glucose Index As A Biomarker Of Cardio-Metabolic Syndromes, Verena Gounden, Sridevi Devaraj, Ishwarlal Jialal Dec 2024

The Role Of The Triglyceride-Glucose Index As A Biomarker Of Cardio-Metabolic Syndromes, Verena Gounden, Sridevi Devaraj, Ishwarlal Jialal

Faculty, Staff and Students Publications

BACKGROUND: The Triglyceride-glucose (TyG) index represents a simple, cost-effective, and valid proxy for insulin resistance. This surrogate marker has also been proposed as a predictor of metabolic and cardiovascular disease (CVD). In this descriptive review, we aimed to assess the utility of the TyG index as a predictive biomarker of cardiometabolic diseases.

METHODS: A search was conducted in PubMed, and Web of Science to identify cross-sectional and more importantly prospective studies examining the use of the TyG index as a predictive biomarker. The following terms were utilized in addition to the TyG index: "insulin resistance", "metabolic syndrome", "diabetes"; "cardiovascular diseases". …


Kinetics Of Naturally Induced Binding And Neutralising Anti-Sars-Cov-2 Antibody Levels And Potencies Among Sars-Cov-2 Infected Kenyans With Diverse Grades Of Covid-19 Severity: An Observational Study, John Kimotho, Yiakon Sein, Shahin Sayed, Reena Shah, Mansoor Saleh, Ann Karanu, Viviane Oluoch, Jasmit Shah, Julius Mutiso, Zaitun Nneka, Alfred Mburu, Peter Betti, Francis M. Ndungu Dec 2024

Kinetics Of Naturally Induced Binding And Neutralising Anti-Sars-Cov-2 Antibody Levels And Potencies Among Sars-Cov-2 Infected Kenyans With Diverse Grades Of Covid-19 Severity: An Observational Study, John Kimotho, Yiakon Sein, Shahin Sayed, Reena Shah, Mansoor Saleh, Ann Karanu, Viviane Oluoch, Jasmit Shah, Julius Mutiso, Zaitun Nneka, Alfred Mburu, Peter Betti, Francis M. Ndungu

Pathology, East Africa

Background: Given the low levels of coronavirus disease 2019 (COVID-19) vaccine coverage in sub-Saharan Africa (sSA), despite high levels of natural severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) exposures, strategies for extending the breadth and longevity of naturally acquired immunity are warranted. Designing such strategies will require a good understanding of naturally acquired immunity.

Methods: We measured whole-spike immunoglobulin G (IgG) and spike-receptor binding domain (RBD) total immunoglobulins (Igs) on 585 plasma samples collected longitudinally over five successive time points within six months of COVID-19 diagnosis in 309 COVID-19 patients. We measured antibody-neutralising potency against the wild-type (Wuhan) SARS-CoV-2 …


Nuclear Expression Of Dynamin 2 Is Associated With Tumor Aggressiveness In Bladder Cancer Patients: A Bioinformatics And Experimental Approach, Mahdieh Razmi, Leili Saeednejad Zanjani, Mandana Rahimi, Roya Sajed, Sadegh Safaei, Zahra Madjd, Roya Ghods Dec 2024

Nuclear Expression Of Dynamin 2 Is Associated With Tumor Aggressiveness In Bladder Cancer Patients: A Bioinformatics And Experimental Approach, Mahdieh Razmi, Leili Saeednejad Zanjani, Mandana Rahimi, Roya Sajed, Sadegh Safaei, Zahra Madjd, Roya Ghods

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Dynamin 2 (DNM2) is aberrantly expressed in different malignancies and exerts a function in tumor progression.

AIMS: This study, for the first time, aimed to evaluate the clinical and prognostic value of DNM2 in the pathophysiology of bladder cancer using bioinformatics analysis and experimental evaluation.

METHODS AND RESULTS: We analyzed gene expression of DNM2 in bladder tumor by GEPIA2 and GENT2 platforms. Cluster subnetworks were recognized from the protein-protein interaction (PPI) network using the MCODE plugin to screen the key genes. Subsequently, the pathway enrichment analysis was evaluated. Then, the immunohistochemical examination was conducted on 209 paraffin-embedded bladder cancer …


Institutional Experience Of Lymphoproliferative Disorders With Initial Diagnosis Made Via Fine Needle Aspiration At Otolaryngology Clinic, Alaa S. Hrizat, Jerald Gong, Stacey M. Gargano Oct 2024

Institutional Experience Of Lymphoproliferative Disorders With Initial Diagnosis Made Via Fine Needle Aspiration At Otolaryngology Clinic, Alaa S. Hrizat, Jerald Gong, Stacey M. Gargano

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: This study characterizes lymphomas presenting as palpable head and neck masses and evaluates the role of fine needle aspiration (FNA) and flow cytometry (FC) in diagnosis.

DESIGN: A 5-year retrospective review of FNAs performed by pathologists in an ENT clinic identified cases with a predominant lymphoid population that lacked an epithelial component. Cytology, FC, and subsequent surgical pathology diagnoses were correlated.

RESULTS: Of 821 FNAs, 154 (19%) met selection criteria. Reactive lymph nodes accounted for 43% (67/154), with most diagnosed as 'negative for malignancy,' except one 'atypical' (ATY) case. Lymphoma was confirmed in 57% (87/154) of cases, categorized as …


Targeting Ribosome Biogenesis Is A Novel Approach For The Management Of Pancreatic Cancer, Mudassier Ahmad, Haider Ahsan, Carlos Perez, Muhammad Bangash, Andrew Massey, Emmanuel Anning, Manish Tripathi, Dae Kim, Subhash C. Chauhan, Bilal Bin Hafeez Sep 2024

Targeting Ribosome Biogenesis Is A Novel Approach For The Management Of Pancreatic Cancer, Mudassier Ahmad, Haider Ahsan, Carlos Perez, Muhammad Bangash, Andrew Massey, Emmanuel Anning, Manish Tripathi, Dae Kim, Subhash C. Chauhan, Bilal Bin Hafeez

Research Colloquium

Pancreatic ductal adenocarcinoma is the third leading cause of cancer-related deaths in the United States with limited therapeutic options available. Gemcitabine, a deoxycytidine nucleoside analog is currently considered the most effective therapy for PanCa. However, it shows only a marginal survival benefit of six months. Aberrant ribosome biogenesis occurs in most tumor types. We observed that PanCa cells are addicted to ribosome biogenesis, which supports their highly aggressive metastatic phenotypes. Thus, strategically targeting ribosome biogenesis process could be one of the ideal strategies for the prevention and treatment of PanCa. In this study, we elucidated the molecular mechanisms of POLR1A …


Keratin 17 Is A Prognostic And Predictive Biomarker In Pancreatic Ductal Adenocarcinoma, Lyanne Delgado-Coka, Lucia Roa-Peña, Sruthi Babu, Michael Horowitz, Emanuel Petricoin, Lynn Matrisian, Edik Blais, Natalia Marchenko, Felicia Allard, Ali Akalin, Wei Jiang, Md, Phd, Brent Larson, Andrew Hendifar, Vincent Picozzi, Minsig Choi, Kenneth Shroyer, Luisa Escobar-Hoyos Sep 2024

Keratin 17 Is A Prognostic And Predictive Biomarker In Pancreatic Ductal Adenocarcinoma, Lyanne Delgado-Coka, Lucia Roa-Peña, Sruthi Babu, Michael Horowitz, Emanuel Petricoin, Lynn Matrisian, Edik Blais, Natalia Marchenko, Felicia Allard, Ali Akalin, Wei Jiang, Md, Phd, Brent Larson, Andrew Hendifar, Vincent Picozzi, Minsig Choi, Kenneth Shroyer, Luisa Escobar-Hoyos

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

OBJECTIVES: To determine the role of keratin 17 (K17) as a predictive biomarker for response to chemotherapy by defining thresholds of K17 expression based on immunohistochemical tests that could be used to optimize therapeutic intervention for patients with pancreatic ductal adenocarcinoma (PDAC).

METHODS: We profiled K17 expression, a hallmark of the basal molecular subtype of PDAC, by immunohistochemistry in 2 cohorts of formalin-fixed, paraffin-embedded PDACs (n = 305). We determined a K17 threshold of expression to optimize prognostic stratification according to the lowest Akaike information criterion and explored the potential relationship between K17 and chemoresistance by multivariate predictive analyses.

RESULTS: …


Artificial Intelligence-Based Segmentation Of Residual Pancreatic Cancer In Resection Specimens Following Neoadjuvant Treatment (Isgpp-2): International Improvement And Validation Study, Boris V Janssen, Bart Oteman, Mahsoem Ali, Pieter A Valkema, Volkan Adsay, Olca Basturk, Deyali Chatterjee, Angela Chou, Stijn Crobach, Michael Doukas, Paul Drillenburg, Irene Esposito, Anthony J Gill, Seung-Mo Hong, Casper Jansen, Mike Kliffen, Anubhav Mittal, Jas Samra, Marie-Louise F Van Velthuysen, Aslihan Yavas, Geert Kazemier, Joanne Verheij, Ewout Steyerberg, Marc G Besselink, Huamin Wang, Caroline Verbeke, Arantza Fariña, Onno J De Boer, Pancreatobiliary And Hepatic Artificial Intelligence Research (Phair) Consortium, International Study Group Of Pancreatic Pathologists (Isgpp); Sep 2024

Artificial Intelligence-Based Segmentation Of Residual Pancreatic Cancer In Resection Specimens Following Neoadjuvant Treatment (Isgpp-2): International Improvement And Validation Study, Boris V Janssen, Bart Oteman, Mahsoem Ali, Pieter A Valkema, Volkan Adsay, Olca Basturk, Deyali Chatterjee, Angela Chou, Stijn Crobach, Michael Doukas, Paul Drillenburg, Irene Esposito, Anthony J Gill, Seung-Mo Hong, Casper Jansen, Mike Kliffen, Anubhav Mittal, Jas Samra, Marie-Louise F Van Velthuysen, Aslihan Yavas, Geert Kazemier, Joanne Verheij, Ewout Steyerberg, Marc G Besselink, Huamin Wang, Caroline Verbeke, Arantza Fariña, Onno J De Boer, Pancreatobiliary And Hepatic Artificial Intelligence Research (Phair) Consortium, International Study Group Of Pancreatic Pathologists (Isgpp);

Faculty, Staff and Student Publications

Neoadjuvant therapy (NAT) has become routine in patients with borderline resectable pancreatic cancer. Pathologists examine pancreatic cancer resection specimens to evaluate the effect of NAT. However, an automated scoring system to objectively quantify residual pancreatic cancer (RPC) is currently lacking. Herein, we developed and validated the first automated segmentation model using artificial intelligence techniques to objectively quantify RPC. Digitized histopathological tissue slides were included from resected pancreatic cancer specimens from 14 centers in 7 countries in Europe, North America, Australia, and Asia. Four different scanner types were used: Philips (56%), Hamamatsu (27%), 3DHistech (10%), and Leica (7%). Regions of interest …


Immunoregulatory Properties Of Immune Cells That Associate With The Lens Capsule Surface During Acute And Resolution Phases Of Experimental Autoimmune Uveitis, Phuong M. Le, Mary J. Mattapallil, Rachel R. Caspi, Mary Ann Stepp, A. Sue Menko Aug 2024

Immunoregulatory Properties Of Immune Cells That Associate With The Lens Capsule Surface During Acute And Resolution Phases Of Experimental Autoimmune Uveitis, Phuong M. Le, Mary J. Mattapallil, Rachel R. Caspi, Mary Ann Stepp, A. Sue Menko

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Inflammation in the eye is tightly regulated to prevent vision impairment and irreversible blindness. Emerging evidence shows that immune cells are specifically recruited to the lens capsule in response to autoimmune uveitis, yet the potential that they have a role in regulating this inflammatory disease remained unexplored. Here, an immunolocalization approach combined with high-resolution confocal microscopy was used to investigate whether the immune cells that become stably associated with the lens capsule in the eyes of C57BL/6J mice with experimental autoimmune uveitis (EAU) have an immunoregulatory phenotype. These studies revealed that during the acute phase of uveitis, at day 18 …


Recurrent Inflammatory Myofibroblastic Tumor Of Larynx Harboring A Novel Thbs1::Alk Fusion, Namra Ajmal, Stacey Gargano, Ujwala Gosavi, Madalina Tuluc Aug 2024

Recurrent Inflammatory Myofibroblastic Tumor Of Larynx Harboring A Novel Thbs1::Alk Fusion, Namra Ajmal, Stacey Gargano, Ujwala Gosavi, Madalina Tuluc

Computational Medicine Center Faculty Papers

Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor primarily occurring in the abdominopelvic region of young patients, and it is characterized by spindle-shaped myofibroblasts, or fibroblasts surrounded by inflammatory infiltrate. Herein, we report a case of a 24-year-old male with a firm submucosal mass in the anterior right vocal fold diagnosed as an IMT that recurred 14 months later. The tumor demonstrated a novel THBS1::ALK fusion containing Exons 1-7 of the thrombospondin 1 (THBS1) gene fused to Exon 19 of the anaplastic lymphoma kinase (ALK) gene via next-generation sequencing with the NextSeq sequencer. The fusion of THBS1 to …


Absence Of Motor Impairments Or Pathological Changes In Tmem230 Knockout Rats, Wenjuan Zhang, Hao Peng, Daihe Yang, Guohua Song, Juan He, Yun Zhou, Cao Huang, Bo Huang Aug 2024

Absence Of Motor Impairments Or Pathological Changes In Tmem230 Knockout Rats, Wenjuan Zhang, Hao Peng, Daihe Yang, Guohua Song, Juan He, Yun Zhou, Cao Huang, Bo Huang

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Parkinson's disease (PD), which is the second most common neurodegenerative disorder, is characterized by progressive movement impairment and loss of midbrain dopaminergic neurons in the substantia nigra. Although mutations in TMEM230 are linked to familial PD, the pathogenic mechanism underlying TMEM230-associated PD remains to be elucidated. To explore the effect of TMEM230 depletion in vivo, we created TMEM230 knockout rats using CRISPR-Cas9 technology. TMEM230 knockout rats did not exhibit any core features of PD, including impaired motor function, loss of dopaminergic neurons in the substantia nigra, or altered expression of proteins related to autophagy, the Rab family, or vesicular trafficking. …


A Machine Learning Model For Risk Stratification Of Postdiagnosis Diabetic Ketoacidosis Hospitalization In Pediatric Type 1 Diabetes: Retrospective Study, Devika Subramanian, Rona Sonabend, Ila Singh Aug 2024

A Machine Learning Model For Risk Stratification Of Postdiagnosis Diabetic Ketoacidosis Hospitalization In Pediatric Type 1 Diabetes: Retrospective Study, Devika Subramanian, Rona Sonabend, Ila Singh

Faculty, Staff and Students Publications

BACKGROUND: Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in pediatric type 1 diabetes (T1D), occurring in approximately 20% of patients, with an economic cost of $5.1 billion/year in the United States. Despite multiple risk factors for postdiagnosis DKA, there is still a need for explainable, clinic-ready models that accurately predict DKA hospitalization in established patients with pediatric T1D.

OBJECTIVE: We aimed to develop an interpretable machine learning model to predict the risk of postdiagnosis DKA hospitalization in children with T1D using routinely collected time-series of electronic health record (EHR) data.

METHODS: We conducted a retrospective case-control …


Crohn's Disease-Associated Granulomatous Pancreatitis With Exocrine Pancreatic Insufficiency, Anthony A Xu, Sara Vincent, Samuel Ma, Vanessa Catania, Neda Zarrin-Khameh Aug 2024

Crohn's Disease-Associated Granulomatous Pancreatitis With Exocrine Pancreatic Insufficiency, Anthony A Xu, Sara Vincent, Samuel Ma, Vanessa Catania, Neda Zarrin-Khameh

Faculty, Staff and Students Publications

Extraintestinal manifestations of inflammatory bowel disease occur commonly and can lead to considerable morbidity. Pancreatic manifestations of inflammatory bowel disease have been reported to be more common in Crohn's disease (CD) than ulcerative colitis. We report a case of granulomatous inflammation in the body of the pancreas with exocrine pancreatic insufficiency, which prompted a diagnosis switch from ulcerative colitis to CD. This is of interest to readers to remind them that pancreatic manifestations can occur and are more common in CD.


Developing The Openflexure Microscope Towards Medical Use: Technical And Social Challenges Of Developing Globally Accessible Hardware For Healthcare, Joe Knapper, Freya Whiteford, Daniel Rosen, William Wadsworth, Julian Stirling, Catherine Mkindi, Joram Mduda, Valerian L Sanga, Paul T Nyakyi, Thomas Hervé Mboa Nkoudou, Elisée Jafsia, Stephane Fadanka, Kelsey Hummel, Sharmila Anandasabapathy, Richard Bowman Jul 2024

Developing The Openflexure Microscope Towards Medical Use: Technical And Social Challenges Of Developing Globally Accessible Hardware For Healthcare, Joe Knapper, Freya Whiteford, Daniel Rosen, William Wadsworth, Julian Stirling, Catherine Mkindi, Joram Mduda, Valerian L Sanga, Paul T Nyakyi, Thomas Hervé Mboa Nkoudou, Elisée Jafsia, Stephane Fadanka, Kelsey Hummel, Sharmila Anandasabapathy, Richard Bowman

Faculty, Staff and Students Publications

The OpenFlexure Microscope is an accessible, three-dimensional-printed robotic microscope, with sufficient image quality to resolve diagnostic features including parasites and cancerous cells. As access to lab-grade microscopes is a major challenge in global healthcare, the OpenFlexure Microscope has been developed to be manufactured, maintained and used in remote environments, supporting point-of-care diagnosis. The steps taken in transforming the hardware and software from an academic prototype towards an accepted medical device include addressing technical and social challenges, and are key for any innovation targeting improved effectiveness in low-resource healthcare. This article is part of the Theo Murphy meeting issue 'Open, reproducible …


Blastomas Of The Digestive System In Adults: A Review, Yu Liu, Tony El Jabbour, Jonathan Somma, Yukihiro Nakanishi, Saverio Ligato, Hwajeong Lee, Zhi-Yan Fu Apr 2024

Blastomas Of The Digestive System In Adults: A Review, Yu Liu, Tony El Jabbour, Jonathan Somma, Yukihiro Nakanishi, Saverio Ligato, Hwajeong Lee, Zhi-Yan Fu

School of Medicine Faculty Publications

Blastomas, characterized by a mixture of mesenchymal, epithelial, and undifferentiated blastematous components, are rare malignant neoplasms originating from precursor blast cells. This review focuses on digestive system blastomas in adult patients, including gastroblastoma, hepatoblastoma, and pancreatoblastoma. Gastroblastoma is a biphasic, epitheliomesenchymal tumor, with only sixteen cases reported to date. In addition to the characteristic histology, metastasis-associated lung adenocarcinoma transcript 1 - glioma-associated oncogene homolog 1 gene fusion is typical, although recently novel ewing sarcoma breakpoint region 1 - c-terminal binding protein 1 and patched 1 - glioma-associated oncogene homolog 2 fusions have been described. Hepatoblastoma is exceptionally rare in adults …


Development Of Solitary Keratoacanthoma From A Cutaneous Wart, Joshua M. Ninan, Veronica Salazar Mar 2024

Development Of Solitary Keratoacanthoma From A Cutaneous Wart, Joshua M. Ninan, Veronica Salazar

Research Symposium

Background: Common cutaneous warts, referred to in medicine as verrucae vulgaris, are proliferative lesions caused by human papillomavirus. These lesions are mostly benign and usually resolve without incident, except in the case of the patient mentioned in this report. Our patient developed a solitary keratoacanthoma, currently accepted as a clinical variant of squamous cell carcinoma, as a result of several risk factors and traumatic exposure. The current literature does not have an established association of HPV with solitary keratoacanthomas. This case report explores the presentation and pathogenesis of solitary keratoacanthomas within the setting of HPV.

Case Presentation: 48-year-old Caucasian female …